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Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Cottrell E, et al. Among authors: festa a. J Clin Endocrinol Metab. 2021 Jul 28;107(1):e401-16. doi: 10.1210/clinem/dgab550. Online ahead of print. J Clin Endocrinol Metab. 2021. PMID: 34318893 Free PMC article.
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Grandone A, et al. Among authors: festa a. Clin Genet. 2016 Nov;90(5):445-450. doi: 10.1111/cge.12771. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26940245
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Cottrell E, et al. Among authors: festa a. J Clin Endocrinol Metab. 2021 Jul 28:dgab550. doi: 10.1210/clinem/dgab550. Online ahead of print. J Clin Endocrinol Metab. 2021. PMID: 34453441
Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.
Aiello F, Pasquali D, Baronio F, Cassio A, Rossi C, Di Fraia R, Carotenuto R, Digitale L, Festa A, Luongo C, Maltoni G, Schiano di Cola R, Del Giudice EM, Grandone A. Aiello F, et al. Among authors: festa a. J Pediatr Endocrinol Metab. 2022 Nov 10;36(1):91-95. doi: 10.1515/jpem-2022-0365. Print 2023 Jan 27. J Pediatr Endocrinol Metab. 2022. PMID: 36351286
237 results